Schinzel A, Binkert F, Lillington D M, Sands M, Stocks R J, Lindenbaum R H, Matthews H, Sheridan H
Institute of Medical Genetics, University of Zürich, Switzerland.
J Med Genet. 1991 May;28(5):352-5. doi: 10.1136/jmg.28.5.352.
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.
我们描述了三名患有明显相同的18号染色体（q12.2q21.1）片段间质性缺失的无血缘关系患者。他们分别是一名身材矮小且智力明显发育迟缓的5岁女孩、一名患有中度智力发育迟缓的2岁半大头且肥胖的男孩，以及一名大头、严重智力发育迟缓的5岁男孩。迄今为止，所有已确定携带这种缺失的五名存活患者共有的特征包括一系列轻微的畸形特征（前额突出、上睑下垂、眶周组织丰满、内眦赘皮、斜视）、肌张力减退、癫痫发作、行为障碍，以及无重大畸形。
